ClinVar Miner

List of variants in gene PCDH15 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16
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HGVS dbSNP
NM_033056.4(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146
NM_033056.4(PCDH15):c.1442T>C (p.Ile481Thr) rs1564625358
NM_033056.4(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.2908G>A (p.Val970Ile) rs138338096
NM_033056.4(PCDH15):c.3127C>T (p.Pro1043Ser) rs189284385
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.4249G>A (p.Ala1417Thr) rs1284117885
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181
NM_033056.4(PCDH15):c.521A>G (p.Asn174Ser) rs145037203
NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1]) rs397517465
NM_033056.4(PCDH15):c.5363_5368TTCCTC[1] (p.1788_1789LP[1]) rs779691085
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe) rs752231055
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502

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